Rowland Payne Syndrome Mimicking Motor Neuron Disease: A Diagnostic Wake-Up Call

Rowland Payne Syndrome | 1 January 2025

Rowland Payne Syndrome (RPS) is an elusive yet clinically significant condition that can easily be mistaken for motor neuron disease (MND), especially amyotrophic lateral sclerosis (ALS). Characterized by a triad of Horner syndrome, vocal cord paralysis, and hemidiaphragm dysfunction, RPS often presents with symptoms that overlap with degenerative neuromuscular disorders—leading to delayed or incorrect diagnosis.

A recent open-access case report published in the Polish Journal of Neurology and Neurosurgery details the case of a woman misdiagnosed with ALS, later found to have Rowland Payne Syndrome due to breast cancer metastasis. This case not only highlights the diagnostic complexity of RPS but also emphasises the need for a vigilant, multidisciplinary approach to atypical neurodegenerative presentations.

Understanding the Diagnostic Challenge

In the case presented, a 64-year-old woman with a remote history of breast cancer was referred for evaluation of:

Progressive flaccid paralysis of the left upper limb
Dysphagia and dysarthria
Ipsilateral Horner’s syndrome
Vocal cord paralysis confirmed by laryngoscopy
Hypoesthesia in the affected limb

Initial assessments—including MRI of the brain and spinal cord, EMG, and nerve conduction studies—suggested a motor neuron process, and a diagnosis of ALS was made two years into her symptom progression.

However, the evolution of sensory symptoms and the presence of Horner’s syndrome—neither typical of ALS—led the team to reinvestigate the case.

Revisiting the Diagnosis: Clues That Point Away from ALS

While ALS is characterized by progressive degeneration of motor neurons, it does not involve sensory fibers or the sympathetic nervous system. The presence of:

Unilateral sensory loss
Persistent ptosis and miosis (Horner syndrome)
Unilateral diaphragm elevation
…should prompt clinicians to question an ALS diagnosis.

Moreover, electrophysiological studies showed that denervation was confined to the left upper limb—uncharacteristic of ALS, which typically shows more widespread involvement over time.

Unmasking Rowland Payne Syndrome

The Triad

Rowland Payne Syndrome presents as a triad of:

Horner Syndrome – Damage to the cervical sympathetic trunk.
Vocal Cord Paralysis – Dysfunction of the recurrent laryngeal nerve.
Hemidiaphragm Paralysis – Injury to the phrenic nerve.

All three nerves run in close proximity at the lower cervical spine and thoracic inlet, making this anatomical region a vulnerable convergence point for lesions—especially malignancies, lymphadenopathy, or trauma.

Confirmatory Imaging

An MRI of the left brachial plexus with contrast revealed:

A mass infiltrating the supraclavicular brachial plexus
Pleural effusion and apical lung changes
Thickened nerve bundles with abnormal signal intensity

Cytology Seals the Diagnosis

Analysis of pleural fluid uncovered atypical cells consistent with a breast cancer immunophenotype, confirming late-onset metastasis as the source of the syndrome—more than 24 years after the original mastectomy.

Diagnostic Framework for RPS vs. ALS

Feature	ALS	RPS
Onset	Typically bilateral or asymmetric	Usually unilateral
Sensory involvement	Absent	Often present (e.g., hypoesthesia)
Horner syndrome	Not seen	Present in most RPS cases
Vocal cord paralysis	Rare	Common (due to recurrent laryngeal damage)
Diaphragm paralysis	May occur late	Often an early or concurrent feature
Imaging findings	Normal or atrophy	Mass, nerve infiltration, effusion possible
EMG findings	Widespread denervation	Localized to one limb
Cancer history	Not typically linked	Common trigger (e.g., breast, lung cancer)

Diagnostic Tools That Made the Difference

High-resolution MRI of the brachial plexus
Chest X-ray revealing diaphragm elevation and pleural effusion
Laryngoscopy confirming vocal cord paralysis
Electromyography showing regional denervation
Pleural fluid cytology confirming malignancy

These tools—used in concert—provided a clear picture that refuted ALS and supported a diagnosis of RPS.

Lessons Learned from the Case

Do not assume ALS when signs are unilateral, especially if sensory changes are present.
Horner syndrome should always prompt a search for mass lesions in the neck and thoracic inlet.
Cancer metastasis can occur decades later, and clinicians must maintain a long-term view in cancer survivors.
Multidisciplinary evaluation, including oncology, neurology, and radiology, is key in complex cases.

Epidemiological Insight

According to a compiled review of 10 reported cases of RPS (including this one):

60% were associated with breast cancer
Mean delay from cancer diagnosis to neurological symptoms was over 8 years
Development of the full triad took up to 3 years in some cases

This latency emphasizes the insidious onset of RPS and underscores why early subtle symptoms should not be dismissed.

Rowland Payne Syndrome represents a diagnostic crossroads: failure to recognize it can lead to misdiagnosis of incurable neurodegenerative disease, while accurate identification opens the door to treatable or manageable underlying causes, particularly malignancy.

For clinicians, it serves as a powerful reminder that:

Atypical presentations of common diseases may actually be typical presentations of rare diseases.
RPS should be part of the differential in any patient with unilateral:
- Arm weakness and atrophy
- Vocal changes
- Horner syndrome
- Respiratory symptoms